RBM10基因变异导致TARP综合征一例  

TARP syndrome caused by RBM10 gene mutation:a case report

作　　者：夏倩 李承燕 叶中绿 XIA Qian;LI Cheng-yan;YE Zhong-lv(Children's Medical Center,the Affiliated Hospital of Guangdong Medical University,Zhanjiang 524000,Guangdong,CHINA)

机构地区：[1]广东医科大学附属医院儿童医学中心,广东湛江524000

出　　处：《海南医学》2023年第13期1934-1938,共5页Hainan Medical Journal

摘　　要：遗传学因素是儿童多发畸形的常见病因。本文报道一例TARP综合征患儿的临床特征与RBM10基因变异情况。患儿临床特征为喂养困难、发育迟缓、肢体抖动、视力障碍、听力缺失、永存左上腔静脉、后颅窝Blake囊肿、舌后坠、小下颌。父母表型无异常。全外显子测序检测+拷贝数变异发现患儿染色体Xp11.23上RBM10基因15~17号外显子半合缺失(chrX:47041146-47041762)。经Sanger验证分析,该变异来源于母亲。结合患儿临床表型,诊断为TARP综合征。目前该病尚无特异性治疗,应重视产前检查,必要时需行全外显子组测序检查。对于携带RBM10变异母亲,应做好产前遗传诊断。Genetic factors are common causes of multiple malformations in children.This paper reports the clin-ical characteristics and RBM10 gene variation of a child with TARP syndrome.The clinical features include feeding diffi-culties,developmental delay,limb jailing,visual impairment,hearing loss,persistent left superior vena cava,posterior fossa blake cyst,posterior lingual pendant,and small mandible.The parents'phenotype was normal.Whole exon se-quencing and copy number variation revealed hemizygous deletion of exon 15-17 of RBM10 gene on chromosome Xp11.23(chrX:47041146-47041762).Sanger’s validation analysis indicated that the mutation was of maternal origin.Combined with the clinical phenotype of the child,the diagnosis was TARP syndrome.There is no specific treatment for this disease,thus prenatal testing should be emphasized,with whole exome sequencing if necessary.For mothers carry-ing the RBM10 variant,prenatal genetic diagnosis should be made.

关 键 词：儿童 TARP综合征 RBM10基因 多发畸形 

分 类 号：R442.8[医药卫生—诊断学]